Association of Genetic Syndrome and Chest Tumor: Is It Just a Coincidence?

Case Report

ISSN: 2574 -1241 DOI: 10.26717/BJSTR.2021.35.005711

Association of Genetic Syndrome and Chest Tumor: Is it Just A Coincidence?

Hani Saiedi1, Massimiliano Rossi2,3, Corinne Collet4, Pauline Monin2, Francois Tronc1 and Stephane Collaud1* 1Department of Thoracic Surgery, Louis Pradel Hospital, France 2Department of Medical Genetics, Maternity and Childhood Hospital, Bron, France 3INSERM U1028, CNRS UMR5292, Lyon Neuroscience Research Center, GENDEV Team, Bron, France 4Department of Biochemistry and Molecular Biology, Lariboisiere Hospital-APHP, Paris, France *Corresponding author: Stephane Collaud, Department of Thoracic Surgery, Louis Pradel Hospital, 28 Avenue Doyen Jean Lépine, 69500 Bron, France

ARTICLE INFO ABSTRACT

Received: April 22, 2021 Citation: Hani S, Massimiliano R, Corinne C, Pauline M, Francois T, Stephane C. Associa- tion of Genetic Syndrome and Chest Tumor: Is it Just A Coincidence?. Biomed J Sci & Tech Published: May 03, 2021 Res 35(3)-2021. BJSTR. MS.ID.005711.

Clinical Summary was made. Thoracoscopic tumor excision was performed with an A 25 years old gentleman was brought to the emergency uneventful postoperative course. department after a high-velocity car accident. Assessment of Airways, Breathing and Circulation was unremarkable. Glasgow Coma Scale was 15. Apart from seat-belt sign, there were no signs of injury on clinical examination. Meanwhile, the examination revealed a patient with a short stature (163 cm), small head with frontal bossing, bilateral genu valgum and brachydactyly. Extreme shoulders’ mobility made shoulder apposition to each other feasible. Extended Focused Assessment with Sonography for Trauma revealed no abnormality. Chest x-ray is showed in Figure

1. Total body Computed Tomography (CT) showed no significant His past medical history was remarkable for extraction of dozens abnormality but a 4 cm well-defined posterior chest wall tumor. of fragments of teethes. In his family history, his father and grand- mother showed a similar phenotype. After a few hours of monitoring, the patient was discharged home with a planned follow-up chest imaging. On magnetic resonance imaging three months later, the tumor was stable in size and did not show sign of invasiveness. Key

Figure 1: Chest x-ray shows a cone-shaped chest and hy- with CT is depicted in Figure 2. After multidisciplinary tumor board picture of fluorodeoxyglucose-positron emission tomography fused poplastic clavicles. discussion, decision for upfront surgical removal of the tumor

Copyright@ Stephane Collaud | Biomed J Sci & Tech Res | BJSTR. MS.ID.005711. 27739 Volume 35- Issue 3 DOI: 10.26717/BJSTR.2021.35.005711

It is characterized by short stature, brachycephaly, delayed closure of the fontanelles and sutures, Wormian bones, midface hypoplasia, delayed eruption of permanent teeth, supernumerary permanent teeth, aplasia or hypoplasia of the clavicles, and other skeletal abnormalities such as hypoplastic iliac wings, and brachydactyly [3]. CCD is caused by mutations in RUNX2 gene, which is mapped to 6p21 chromosome [3]. RUNX2 plays a key role in osteogenesis and osteoblast precursor cell differentiation [3]. Here, the presence of

the diagnosis of CCD. c.685+1G>A mutation of RUNX2 on molecular analysis confirmed The association of CCD and schwannoma has been rarely reported. Pattisapu, et al. [4] described a patient with paraparesis due to spinal cord compression at the T1 level with a good clinical outcome one year after resection of the schwannoma. The second patient was described by Scherer, et al. [5] She suffered from ataxia, Figure 2: Fluorodeoxyglucose-positron emission tomogra- headache and hearing loss secondary to vestibular schwannoma [5]. phy fused with CT showed moderate intensity of the right Both authors speculated a common origin for CCD and schwannoma chest wall tumor with a maximal standard uptake value since both disorders may arise from mesodermal abnormalities of 2.9. [4,5]. This is the third report showing this unusual association. Despite the low prevalence of CCD, we hope future reports will Questions elucidate whether the association of CCD and schwannoma is more What is the genetic syndrome the patient is suffering from? than just a coincidence. What is your presumed diagnosis regarding the chest wall tumor? References 1. Marie P, Sainton P (1898) Sur la dysostose cleidiocranienne hereditaire. case in this patient? Many genetic syndromes predispose to specific tumors. Is it the Rev Neurol 6: 835-838. Answer 2. Lee KE (2013) RUNX2 mutations in cleidocranial dysplasia. Genetics and molecular research : GMR 12(4): 4567-4574. Intraoperatively, the tumor was pedunculated on the intercostal 3. Cohen MM (2001) RUNX genes, neoplasia, and cleidocranial dysplasia. space. Histopathologic examination of the specimen revealed a American journal of medical genetics 104(3): 185-188. benign tumor, namely an intercostal nerve schwannoma. The patient 4. Pattisapu J, Miller JD, Sanford RA (1986) Cleidocranial dysostosis and schwannoma. Neurosurgery 18(6): 827-828. described by Marie and Sainton in 1898 [1]. It is a rare autosomal 5. Scherer A, Messing Junger AM, Lackmann GM (2001) Cleidocranial is affected by Cleido-Cranial Dysplasia (CCD). This condition was first dominant skeletal disorder with a prevalence of one per million [2]. dysostosis, unilateral sensorineural hearing loss and gait disturbances: a clear-cut case of diagnostic mimicry? Neuropediatrics 32(5): 275-276.

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